Canonical Allele Identifier: CA806634612

Gene: GABRA1

Linked Data

• dbSNP Id: rs1237555579
• gnomAD v3: 5-161848242-G-T
• gnomAD v4: 5-161848242-G-T
• MyVariant Identifiers: chr5:g.161275248G>T (hg19) ; chr5:g.161848242G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161848242G>T , CM000667.2:g.161848242G>T	GRCh38
NC_000005.9:g.161275248G>T , CM000667.1:g.161275248G>T	GRCh37
NC_000005.8:g.161207826G>T	NCBI36
NG_011548.1:g.6052G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000393943.10:c.-196G>T MANE Select	ENSP00000377517.4:n.-196G>T
ENST00000635916.2:n.580G>T
ENST00000638112.1:c.-196G>T	ENSP00000489839.1:n.-196G>T
ENST00000023897.10:c.-196G>T	ENSP00000023897.6:n.-196G>T
ENST00000393943.9:c.-196G>T	ENSP00000377517.4:n.-196G>T
ENST00000428797.7:c.-196G>T	ENSP00000393097.2:n.-196G>T
ENST00000635096.1:c.-196G>T	ENSP00000489033.1:n.-196G>T
NM_000806.5:c.-196G>T	NP_000797.2:n.-196G>T
NM_001127643.1:c.-196G>T	NP_001121115.1:n.-196G>T
NM_001127644.1:c.-196G>T	NP_001121116.1:n.-196G>T
XR_941158.3:n.89+2278C>A
NM_001127644.2:c.-196G>T MANE Select	NP_001121116.1:n.-196G>T
NM_001127643.2:c.-196G>T	NP_001121115.1:n.-196G>T